Suggestive linkage of familial mesial temporal lobe epilepsy to chromosome 3q26

Epilepsy Research

Volumn 108, Issue 2, 2014, Pages 232-240

  Fanciulli, Manuela ^a   Di Bonaventura, Carlo ^b   Egeo, Gabriella ^b,c   Fattouch, Jinane ^b   Dazzo, Emanuela ^d   Radovic, Slobodanka ^e   Spadotto, Alessandro ^e   Giallonardo, Anna Teresa ^b   Nobile, Carlo ^d  

^a Porto Conte Ricerche Srl   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c IRCCS SAN RAFFAELE PISANA   (Italy)

^d CNR   (Italy)

^e IGA Technology Services   (Italy)

Author keywords

Exome sequencing; Linkage analysis; Neurogenetics; Temporal lobe epilepsy

Indexed keywords

EXOME SEQUENCING; LINKAGE ANALYSIS; NEUROGENETICS; TEMPORAL LOBE EPILEPSY;

ADOLESCENT; CHILD; CHROMOSOMES, HUMAN, PAIR 3; EPILEPSY, TEMPORAL LOBE; FEMALE; GENETIC LINKAGE; HUMANS; MALE; PEDIGREE;

EID: 84895074772     PISSN: 09201211     EISSN: 18726844     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2013.11.002     Document Type: Article

References (32)

1. Abecasis G.R., Cherny S.S., Cookson W.O., Cardon L.R. Merlin - rapid analysis of dense genetic maps using sparse gene flow trees. Nat. Genet. 2002, 30:97-101.
2. Angelicheva D., Tournev I., Guergueltcheva V., Mihaylova V., Azmanov D.N., Morar B., Radionova M., Smith S.J., Zlatareva D., Stevens J.M., Kaneva R., Bojinova V., Carter K., Brown M., Jablensky A., Kalaydjieva L., Sander J.W. Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32. Epilepsia 2009, 50:1679-1688.
3. Barrett J.C., Fry B., Maller J., Daly M.J. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005, 21:263-265.
4. Baulac S., Picard F., Herman A., Feingold J., Genin E., Hirsch E., Prud'homme J.F., Baulac M., Brice A., LeGuern E. Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31. Ann. Neurol. 2001, 49:786-792.
5. Berkovic S.F., McIntosh A., Howell R.A., Mitchell A., Sheffield L.J., Hopper J.L. Familial temporal lobe epilepsy: a common disorder identified in twins. Ann. Neurol. 1996, 40:227-235.
6. Cendes F., Lopes-Cendes I., Andermann E., Andermann F. Familial temporal lobe epilepsy: a clinically heterogeneous syndrome. Neurology 1998, 50:554-557.
7. Chahine L., Abou-Khalil B., Siren A., Andermann F., Hedera P., Ge Q., Andermann E., Pandolfo M. A new locus for familial temporal lobe epilepsy on chromosome 3q. Epilepsy Res. 2013, doi:10.1016/j.eplepsyres.2013.07.007.
8. Choi H., Winawer M.R., Kalachikov S., Pedley T.A., Hauser W.A., Ottman R. Classification of partial seizure symptoms in genetic studies of the epilepsies. Neurology 2006, 66:1648-1653.
9. Claes L., Audenaert D., Deprez L., Van Paesschen W., Depondt C., Goossens D., Del-Favero J., Van Broeckhoven C., De Jonghe P. Novel locus on chromosome 12q22-q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures. J. Med. Genet. 2004, 41:710-714.
10. Crompton D.E., Scheffer I.E., Taylor I., Cook M.J., McKelvie P.A., Vears D.F., Lawrence K.M., McMahon J.M., Grinton B.E., McIntosh A.M., Berkovic S.F. Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance. Brain 2010, 133:3221-3231.
11. Dai X.-H., Chen W.-W., Wang X., Zhu Q.H., Li C., Li L., Liu M.G., Wang Q.K., Liu J.Y. A novel genetic locus for familial febrile seizures and epilepsy on chromosome 3q26.2-q26.33. Hum. Genet. 2008, 124:423-429.
12. Depondt C., Van Paesschen W., Matthijs G., Legius E., Martens K., Demaerel P., Wilms G. Familial temporal lobe epilepsy with febrile seizures. Neurology 2002, 58:1429-1433.
13. Gambardella A., Messina D., Le Piane E., Oliveti R.L., Annesi G., Zappia M., Andermann E., Quattrone A., Aguglia U. Familial temporal lobe epilepsy autosomal dominant inheritance in a large pedigree from Southern Italy. Epilepsy Res. 2000, 38:127-132.
14. Gilissen C., Hoischen A., Brunne H.G., Veltman J.A. Disease gene identification strategies for exome sequencing. Eur. J. Hum. Genet. 2012, 20:490-497.
15. Hedera P., Blair M.A., Andermann E., Andermann F., D'Agostino D., Taylor K.A., Chahine L., Pandolfo M., Bradford Y., Haines J.L., Abou-Khalil B. Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3. Neurology 2007, 68:2107-2112.
16. Kobayashi E., D'Agostino M.D., Lopes-Cendes I., Berkovic S.F., Li M.L., Andermann E., Andermann F., Cendes F. Hippocampal atrophy and T2 weighted signal changes in familial mesial temporal lobe epilepsy. Neurology 2003, 60:405-409.
17. Koboldt D.C., Chen K., Wylie T., Larson D.E., McLellan M.D., Mardis E.R., Weinstock G.M., Wilson R.K., Ding L. VarScan: variant detection in massively parallel sequencing of individual and pooled samples. Bioinformatics 2009, 25:2283-2285.
18. Labate A., Gambardella A., Andermann E., Aguglia U., Cendes F., Berkovic S.F., Andermann F. Benign mesial temporal lobe epilepsy. Nat. Rev. Neurol. 2011, 7:237-240.
19. Li H., Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009, 25:1754-1760.
20. Li H., Handsaker B., Wysoker A., Fennel T., Ruan J., Homer N., Marth G., Abecasis G., Durbin R. The sequence alignment/map format SAMTools. Bioinformatics 2009, 25:2078-2079. 1000 Genome Project Data Processing Subgroup.
21. McKenna A., Hanna M., Banks E., Sivachenko A., Cibulskis K., Kernytsky A., Garimella K., Altshuler D., Gabriel S., Daly M., DePristo M.A. The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010, 20:1297-1303.
22. Michelucci R., Pasini E., Malacrida S., Striano P., Di Bonaventura C.D., Pulitano P., Bisulli F., Egeo G., Santulli L., Sofia V., Gambardella A., Elia M., de Falco A., La Neve A.L., Banfi P., Coppola G., Avoni P., Binelli S., Boniver C., Pisano T., Marchini M., Dazzo E., Fanciulli M., Bartolini Y., Riguzzi P., Volpi L., de Falco F.A., Giallonardo A.T., Mecarelli O., Striano S., Tinuper P., Nobile C. Low penetrance of autosomal dominant lateral temporal epilepsy in Italian families without LGI1 mutations. Epilepsia 2013, 54:1288-1297.
23. Nobile C., Michelucci R., Andreazza S., Pasini E., Tosatto S.C., Striano P. LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy. Hum. Mutat. 2009, 30:530-536.
24. Picard F., Baulac S., Kahane P., Hirsch E., Sebastianelli R., Thomas P., Vigevano F., Genton P., Guerrini R., Gericke C.A., An I., Rudolf G., Herman A., Brice A., Marescaux C., LeGuern E. Dominant partial epilepsies. A clinical, electrophysiological and genetic study of 19 European families. Brain 2000, 123:1247-1262.
25. Purcell S., Neale B., Todd-Brown K., Thomas L., Ferreira M.A., Bender D., Maller J., Sklar P., de Bakker P.I., Daly M.J., Sham P.C. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 2007, 81:559-575.
26. Regesta G., Tanganelli P. Temporal lobe epilepsy of adult age of possible idiopathic nature. Seizure 2002, 11:131-135.
27. Sander T., Schulz H., Saar K., Gennaro E., Riggio M.C., Bianchi A., Zara F., Luna D., Bulteau C., Kaminska A., Ville D., Cieuta C., Picard F., Prud'homme J.F., Bate L., Sundquist A., Gardiner R.M., Janssen G.A., de Haan G.J., Kasteleijn-Nolst-Trenité D.G., Bader A., Lindhout D., Riess O., Wienker T.F., Janz D., Reis A. Genome search for susceptibility loci of common idiopathic generalized epilepsies. Hum. Mol. Genet. 2000, 9:1465-1472.
28. Sobel E., Lange K. Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics. Am. J. Hum. Genet. 1996, 58:1323-1337.
29. Striano P., Gambardella A., Coppola A., Di Bonaventura C., Bovo G., Diani E., Boaretto F., Egeo G., Campa C., Labate A., Testoni S., Passatelli D., Manna I., Sferro C., Aguglia U., Caranci F., Giallonardo A.T., Striano S., Nobile C., Michelucci R. Familial mesial temporal lobe epilepsy (FMTLE): a clinical and genetic study of 15 Italian families. J. Neurol. 2008, 255:16-23.
30. Vezzi F., Del Fabbro C., Tomescu A.I., Policriti A. rNA: a fast and accurate short reads numerical aligner. Bioinformatics 2012, 28:123-124.
31. Wang K., Li M., Hakonarson H. ANNOVAR: Functional annotation of genetic variants from next-generation sequencing data. Nucleic Acids Res. 2010, 38:e164.
32. Ward N., Evanson J., Cockerell O.C. Idiopathic familial temporal lobe epilepsy with febrile convulsions. Seizure 2002, 11:16-19.